News and views on autism research and other musings. Sometimes uncomfortable but rooted in peer-reviewed scientific research.

Thursday, 2 January 2014

Treatable inborn errors of metabolism in cases of autism

Happy New Year! Καλή Χρονιά (in Greek).

Welcome back to Questioning Answers in 2014. Let's continue our journey across the autism research landscape.

Party time, excellent @ Wikipedia

Holidays. Whilst never regretting the opportunity to go on holiday/vacation, I am the type of person who has a strong desire to stay connected to the (research) world. I wouldn't necessarily say that I'm a product of the age of social media, more of late convert who ran enthusiastically towards the light.

Actually it wasn't all my fault that I didn't accept this review. Granted I didn't access my email on holiday as often as I do when working, but more than that, the publishing journal seemed to expect quite a prompt reply on whether or not I was willing to review. I didn't reply in time, so I missed out. That's what happens in August, the holiday month, the time the kids are off school, y'know, the summer (at least here in my part of the World). No mind, I am happy to see that the Spilioti paper has seen the light of scientific day and hence become fodder for this blog.

The Spilioti paper evaluated 187 Greek children diagnosed with an autism spectrum condition on the basis of quite a few parameters. We're told that alongside taking quite a bit of information about family history and dietary habits, quite a few laboratory investigations were initiated, too numerous to all mention here. I have to say I was particularly impressed by the authors talking about a glucose loading test (with mitochondrial issues in mind) alongside serum and urine amino and organic acid screens; even looking at carnitine levels. The Greeks seem to be taking a lead in this 'look-see' approach when it comes to the autisms.

Perhaps of more interest were the findings related to that glucose loading test and the suggestion that there was an increase in serum beta hydroxybutyrate (β-OH-b) in around 8% of participants. Although not an expert on this particular metabolite, I understand that elevations can indicate one or several possible scenarios (see here). The authors elaborate that some of those with elevations in β-OH-b also "manifested exacerbation of symptoms during high carbohydrate intake" which brings in an interesting dietary element. Indeed, further when a ketogenic diet (high fat, low carbohydrate intake) was initiated in [some of] those with increased β-OH-b, some interesting behavioural changes were reported; one participant was reported to show "remarkable improvement" in his CARS scores, which was followed by a cessation of medication and attendance at a "public elementary school without clinical problems". Yes, I know this was a case series (an optimal outcomer?) and not a controlled trial of the ketogenic diet where increased serum β-OH-b levels have been identified. Perhaps this is the next experimental step?

Other interesting findings. Well, yes. Around 7% of participants also showed elevated levels of urinary 3-hydroxyisovaleric acid (3-OH-IVA). Assuming that these child participants were not smokers (see here***) we are also told that none of these 7% were also "undergoing valproate intervention" which is another potential way of elevating 3-OH-IVA (see here****). And when it came to intervening with biotin as a function of the connection between 3-OH-IVA and biotin*****, authors again reported some interesting outcomes leading to "clear therapeutic benefit" noted in CARS scores for some. Please note I'm not suggesting anything based on these findings as per my caveat about no medical or clinical advice given or intended.

There is a lot more, data-wise, in the Spilioti paper which I've not been able to include in this post. As per the growing literature on autism perhaps being better defined as the 'autisms' I would echo the sentiments of Spilioti and colleagues when they say: "further consideration be given to the selected analysis of IEM [inborn errors of metabolism] in ASD". That dietary and nutritional supplementation might also be a road to improvement in the presentation of symptoms for some on the spectrum with identified metabolic parameters is also a very important consideration too.

Some music to close, and for those of who watched the New Year festivities from the comfort of your own home like I did to the tune of offspring chatter of 'can I stay up late please?', Alfie and Gary sing a classic...

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Questioning Answers

About Me

I have been involved in autism research for more years than I care to remember. My Questioning Answers blog (http://questioning-answers.blogspot.com/) is a place to describe and discuss various research into autism spectrum and related conditions. My Gutness Gracious Me blog (http://gutness-gracious-me.blogspot.com/) is for discussions on various gastrointestinal research. I make no recommendations, I am not giving any medical advice, I am not formulating any specific opinions and do not want to get into any ethical, political or religious debates. I am not trying to change anyone's opinions, views, beliefs or anything else. These are purely blogs about science and research in autism and a few other interesting things. Any posts I make are my own opinions and not reflective of any organisation I am affiliated to. Keep in mind that science deals with probabilities not absolutes.

ABOUT AUTISM SPECTRUM CONDITIONS

Autism or autism spectrum conditions describe several presentations characterised by core issues with social affect and stereotyped or repetitive actions. Diagnosis is made by observation and analysis of developmental history. These are heterogeneous conditions which can carry various co-morbidities and whilst described as life-long are affected by age and maturation. Autism means different things to different people. To some it means a need for life-long support. To others it is part of the varied tapestry of humanity. To all it means a need to foster a welcoming society with appropriate support and opportunities.